{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T08:52:57Z","timestamp":1790758377937,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,10,16]],"date-time":"2014-10-16T00:00:00Z","timestamp":1413417600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2014,11]]},"abstract":"Abstract<\/jats:title>\n \n The patients with\n CD<\/jats:styled-content>\n 3\n \u03b3<\/jats:italic>\n deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new\n CD<\/jats:styled-content>\n 3gamma\u2010deficient siblings from a consanguineous family with a combined\n T<\/jats:styled-content>\n \u2212\n B<\/jats:styled-content>\n +\n NK<\/jats:styled-content>\n + immunodeficiency and their variable clinical and cellular phenotypes despite the same homozygous mutation of the\n CD<\/jats:styled-content>\n 3\n G<\/jats:styled-content>\n gene (c.80\u20101\n G<\/jats:styled-content>\n >\n C<\/jats:styled-content>\n ). We also re\u2010evaluate a previously reported non\u2010consanguineous family with two\n CD<\/jats:styled-content>\n 3gamma\u2010deficient siblings with the same mutation. The median age at diagnosis was 11\u00a0years (14\u00a0months\u201320\u00a0years). We found all five patients to display autoimmunity: autoimmune thyroiditis (\n n<\/jats:italic>\n \u00a0=\u00a05), autoimmune haemolytic anaemia (\n n<\/jats:italic>\n \u00a0=\u00a02), immune thrombocytopenia (\n n<\/jats:italic>\n \u00a0=\u00a01), autoimmune hepatitis (\n n<\/jats:italic>\n \u00a0=\u00a01), minimal change nephrotic syndrome (\n n<\/jats:italic>\n \u00a0=\u00a01), vitiligo (\n n<\/jats:italic>\n \u00a0=\u00a01) and positive antinuclear antibodies (\n n<\/jats:italic>\n \u00a0=\u00a03) as well as high\n I<\/jats:styled-content>\n g\n E<\/jats:styled-content>\n (\n n<\/jats:italic>\n \u00a0=\u00a02) and atopic eczema (\n n<\/jats:italic>\n \u00a0=\u00a02). While\n CD<\/jats:styled-content>\n 3\n +<\/jats:sup>\n TCR<\/jats:styled-content>\n \u03b1\u03b2<\/jats:italic>\n +\n T<\/jats:styled-content>\n cell percentages were low in all patients, only one had lymphopenia and 3 had\n CD<\/jats:styled-content>\n 3\n +<\/jats:sup>\n T<\/jats:styled-content>\n cell lymphopenia. Strikingly, we report frequent and multiple autoimmunity in tested heterozygous carriers in both families (\n n<\/jats:italic>\n \u00a0=\u00a06; in 67%), and frequent autoimmunity in family members not available for testing (\n n<\/jats:italic>\n \u00a0=\u00a05, in 80%). The results suggest that CD3G should be studied as a candidate gene for autoimmunity and that CD3gamma deficiency should be considered among other primary immunodeficiencies with predominantly autoimmune manifestations.\n <\/jats:p>","DOI":"10.1111\/sji.12200","type":"journal-article","created":{"date-parts":[[2014,6,9]],"date-time":"2014-06-09T06:47:44Z","timestamp":1402296464000},"page":"354-361","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["\n CD3G<\/i>\n <\/scp>\n Gene Defects in Familial Autoimmune Thyroiditis"],"prefix":"10.1111","volume":"80","author":[{"given":"B.","family":"Gokturk","sequence":"first","affiliation":[{"name":"Division of Immunology and Allergy Konya Training and Research Hospital Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Keles","sequence":"additional","affiliation":[{"name":"Division of Immunology and Allergy Department of Pediatrics Necmettin Erbakan University Meram Medical Faculty Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kirac","sequence":"additional","affiliation":[{"name":"Division of Immunology and Allergy Department of Pediatrics Necmettin Erbakan University Meram Medical Faculty Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Artac","sequence":"additional","affiliation":[{"name":"Division of Immunology and Allergy Department of Pediatrics Selcuk University Medical Faculty Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Tokgoz","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology Department of Pediatrics Necmettin Erbakan University Meram Medical Faculty Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. N.","family":"Guner","sequence":"additional","affiliation":[{"name":"Division of Immunology and Allergy Department of Pediatrics Necmettin Erbakan University Meram Medical Faculty Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Caliskan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology Department of Pediatrics Necmettin Erbakan University Meram Medical Faculty Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Caliskaner","sequence":"additional","affiliation":[{"name":"Division of Immunology and Allergy Department of Internal Medicine Necmettin Erbakan University Meram Medical Faculty Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"van der Burg","sequence":"additional","affiliation":[{"name":"Department of Immunology Erasmus MC University Medical Center Rotterdam Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"van Dongen","sequence":"additional","affiliation":[{"name":"Department of Immunology Erasmus MC University Medical Center Rotterdam Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. V.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Sciences Institute of Biomedical Research College of Medical and Dental Sciences University of Birmingham Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Reisli","sequence":"additional","affiliation":[{"name":"Division of Immunology and Allergy Konya Training and Research Hospital Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,10,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.23.021704.115625"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.iy.06.040188.003213"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199208203270805"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/pai.12063"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","first-page":"4007","DOI":"10.1182\/blood.V96.12.4007a","article-title":"Fourteen years'follow\u2010up of an autoimmune patient lacking the CD3 gamma subunit of the T\u2010lymphocyte receptor","volume":"96","author":"Allende LM","year":"2000","journal-title":"Blood"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.178.4.2556"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2008.00957.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(86)91413-3"},{"key":"e_1_2_6_10_1","first-page":"81","article-title":"Low expression of T\u2010cell receptor\u2010CD3 complex: a case with a clinical presentation resembling humoral immunodeficiency","volume":"38","author":"Sanal O","year":"1996","journal-title":"Turk J Pediatr"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)01194-7"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.170.12.5947"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200422588"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V82.8.2585.2585"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000029"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2008.01.018"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70024-2"},{"key":"e_1_2_6_18_1","first-page":"439","article-title":"Rhinologic changes in cystic fibrosis and hypogammaglobulinemia","volume":"51","author":"Babi\u0144ski D","year":"1997","journal-title":"Otolaryngol Pol"},{"key":"e_1_2_6_19_1","first-page":"251","article-title":"Chronic rhinosinusitis and recurrent nasal polyps in two children with IgG subclass deficiency and review of the literature","volume":"8","author":"Chinratanapisit S","year":"2005","journal-title":"J Med Assoc Thai"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.2.536"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2011.00015"}],"container-title":["Scandinavian Journal of Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fsji.12200","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/sji.12200","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T08:11:39Z","timestamp":1696147899000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/sji.12200"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,16]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1111\/sji.12200"],"URL":"https:\/\/doi.org\/10.1111\/sji.12200","archive":["Portico"],"relation":{},"ISSN":["0300-9475","1365-3083"],"issn-type":[{"value":"0300-9475","type":"print"},{"value":"1365-3083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,16]]},"assertion":[{"value":"2014-01-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-04-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-10-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}